Cyclic fatigue resistance and shaping ability of heat-treated nickel-titanium instruments after repeated use.

AIMS: To evaluate the effect of multiple-use and sterilization on cyclic fatigue and shaping ability of heat-treated nickel-titanium (NiTi) rotary instruments. METHODS: A total of 120 acrylic blocks with S-shaped canals were photographed and prepared by HyFlex CM, ProTaper Next, and Twisted File. Ten new sets of each rotary instruments were used for four times. The autoclaving process was repeated after each use. Pre- and post instrumentation images were superimposed. The amount of resin removal and canal transportation by each system was measured in eleven different points. Instruments were subsequently subjected to a cyclic fatigue test in a double-curved artificial canal. The means and standard deviations of the number of cycles to failure (NCF) were calculated and statistically analyzed (P < 0.05). RESULTS: No fractures occurred during the shaping of the simulated canals. The ProTaper Next removed the greatest amount of resin, whereas the Twisted File had the lowest values at all levels. Repeated clinical use and sterilization resulted in a decrease in the resin removal at most levels in Twisted File and ProTaper Next. In terms of canal transportation, an increase in a limited number of levels was detected after repeated use of all rotary files. Twisted File had the greatest cyclic fatigue resistance, followed by HyFlex CM and ProTaper Next (P < 0.05). CONCLUSIONS: The effects of repeated use and autoclaving on the cyclic fatigue resistance of HyFlex CM, ProTaper Next, and Twisted File were not significant. Canal transportation increased mostly in the apical region. The amount of resin removal decreased as the number of use increased for ProTaper Next and Twisted File instruments.

Metabolic syndrome is not only a risk factor for cardiovascular diseases in systemic lupus erythematosus but is also associated with cumulative organ damage: a cross-sectional analysis of 311 patients.

BACKGROUND/PURPOSE: Patients with systemic lupus erythematosus (SLE) have increased rates of cardiovascular disease (CVD) that are one of the major causes of mortality. The aim of this study was to determine the frequencies of metabolic syndrome (MetS) and CVD in SLE patients and investigate the link between these and clinical features of SLE. METHODS: A total of 311 SLE patients were consecutively assessed for cumulative organ damage (SDI/SLICC scores), history of CVD and MetS as defined by the National Cholesterol Educational Program Adult Treatment Panel III (NCEP ATP III). Clinical data of SLE patients were collected from the records. RESULTS: The mean age of the patients was 40.2 ± 13.4 years and 89% were female. The frequencies of CVD and MetS were 15.2% and 19%, respectively. In this SLE cohort increased age, cumulative damage, disease duration and CVD were associated with MetS. CVD was associated with disease duration, cumulative damage, pericarditis, hematologic involvement, lymphopenia, thrombocytopenia, neurological involvement and antiphospholipid antibody (aPL) positivity. Hydroxychloroquine (HCQ) use was found as a protective factor for CVD. CONCLUSION: In SLE patients, MetS was associated with CVD and both increased with disease duration. Patients who developed MetS and/or CVD had increased cumulative organ damage. Certain clinical features of SLE and the presence of aPL were also associated with CVD. There was a significant protective effect of HCQ from CVD. The prevention of MetS and long-term use of HCQ may be beneficial in improving the prognosis of SLE.

Favourable pregnancy outcome in Takayasu arteritis: a single-centre experience.

OBJECTIVES: Takayasu arteritis is a chronic large-vessel vasculitis in young women of reproductive age. We aimed to obtain information on pregnancy in TA retrospectively. METHODS: Takayasu arteritis patients with history of pregnancy were included in this study. The evaluations included physical findings, serum C-reactive protein, erythrocyte sedimentation rate as well as history and symptoms. Information about pregnancies, abortus, deliveries and newborns was obtained from medical records. Disease activity score, disease damage index appraised Kerr's criteria and vasculitis damage index (VDI) and medication were recorded. RESULTS: Thirty-six Takayasu arteritis patients who had a total of 84 pregnancies were evaluated. The mean age of patients ranged 24.5 ± 6.6 years. Subclavian arteries (86%) were the most frequently involved vessels. We were able to complete the follow-up of ten patients who had a pregnancy after diagnosis during the period of pregnancy. Two patients who had renal artery involvement and active disease in third trimester suffered from preeclampsia and a worsening of hypertension. In one of them, disease flared up in the third trimester. There was no active disease in the postpartum sixth month. Maternal heart failure, cerebrovascular accident, death or cerebral hypoperfusion at the time of delivery, asphyxia and newborn anomalies were not seen in any of these patients. CONCLUSIONS: TA pregnancies may have a favourable outcome with regular follow-up schedule and close monitorisation of blood pressure.

Use of ductoscopy as an additional diagnostic method and its applications in nipple discharge.

AIM: About 1/10 of the patients apply to breast clinics with the complaint of nipple discharge (ND). Surgery is the most frequently preferred treatment method in case of suspicious ND. The contribution of ductoscopy to identify the patients who are candidates for surgery was evaluated and its role to limit the surgery was assessed. METHODS: From November 2005 to December 2010 430 patients with ND were assessed by 456 ductoscopic investigations and the results were analyzed. Complete ductoscopic evaluation was achieved in 84% of cases and 28 patients were offered surgery but did not accept (N.=355). Patients with bloody or serous discharges from a single duct were investigated by ductoscopy under local anesthesia as an office procedure. The patients were grouped according to discharge characteristics and the ductoscopic diagnoses. RESULTS: A total of 223 patients had all three criteria of pathologic ND (PND: single duct, spontaneous and bloody/serous discharge). Twenty-two potential neoplastic or malignant lesion (PNML) and 79 papillomatous lesion (solitary or multiple papilloma) were identified. In 132 patients with just two of the PND criteria, 5 PNML and 18 papillomatous lesions were identified. Twenty-three patients with solitary papilloma that were removed by ductoscopic papillomectomy (DP) are followed up without surgery. CONCLUSION: Ductoscopy helped to identify the patients who required surgical treatment and decreased the number of operations. DP was successfully performed in select group of patients who otherwise would have required surgical resection. Patients with normal ductoscopy findings and patients who were treated with DP successfully can be followed up without the need of surgery.

Mechanical characterization of a novel biomimetic artificial disc for the cervical spine.

A novel biomimetic artificial intervertebral disc (bioAID) replacement implant has been developed containing a swelling hydrogel representing the nucleus pulposus, a tensile strong fiber jacket as annulus fibrosus and titanium endplates with pins to primarily secure the device between the vertebral bodies. In this study, the design safety of this novel implant was evaluated based on several biomechanical parameters, namely compressive strength, shear-compressive strength, risk of subsidence and device expulsion as well as identifying the diurnal creep-recovery characteristics of the device. The bioAID remained intact up to 1 kN under static axial compression and only 0.4 mm of translation was observed under a compressive shear load of 20 N. No subsidence was observed after 0.5 million cycles of sinusoidal compressive loading between 50 and 225 N. After applying 400 N in antero-posterior direction under 100 N axial compressive preload, approximately 2 mm displacement was found, being within the range of displacements reported for other commercially available cervical disc replacement devices. The diurnal creep recovery behavior of the bioAID closely resembled what has been reported for natural intervertebral discs in literature. Overall, these results indicate that the current design can withstand (shear-compression loads and is able to remain fixed in a mechanical design resembling the vertebral bodies. Moreover, it is one of the first implants that can closely mimic the poroelastic and viscoelastic behavior of natural disc under a diurnal loading pattern.

Biomechanical evaluation of a novel biomimetic artificial intervertebral disc in canine cervical cadaveric spines.

Background Context: Cervical disc replacement (CDR) aims to restore motion of the treated level to reduce the risk of adjacent segment disease (ASD) compared with spinal fusion. However, first-generation articulating devices are unable to mimic the complex deformation kinematics of a natural disc. Thus, a biomimetic artificial intervertebral CDR (bioAID), containing a hydroxyethylmethacrylate (HEMA)-sodium methacrylate (NaMA) hydrogel core representing the nucleus pulposus, an ultra-high-molecular-weight-polyethylene fiber jacket as annulus fibrosus, and titanium endplates with pins for primary mechanical fixation, was developed. Purpose: To assess the initial biomechanical effect of the bioAID on the kinematic behavior of the canine spine, an ex vivo biomechanical study in 6-degrees-of-freedom was performed. Study Design: A canine cadaveric biomechanical study. Methods: Six cadaveric canine specimens (C3-C6) were tested in flexion-extension (FE), lateral bending (LB) axial rotation (AR) using a spine tester in three conditions: intact, after C4-C5 disc replacement with bioAID, and after C4-C5 interbody fusion. A hybrid protocol was used where first the intact spines were subjected to a pure moment of ±1 Nm, whereafter the treated spines were subjected to the full range of motion (ROM) of the intact condition. 3D segmental motions at all levels were measured while recording the reaction torsion. Biomechanical parameters studied included ROM, neutral zone (NZ), and intradiscal pressure (IDP) at the adjacent cranial level (C3-C4). Results: The bioAID retained the sigmoid shape of the moment-rotation curves with a NZ similar to the intact condition in LB and FE. Additionally, the normalized ROMs at the bioAID-treated level were statistically equivalent to intact during FE and AR while slightly decreased in LB. At the two adjacent levels, ROMs showed similar values for the intact compared to the bioAID for FE and AR and an increase in LB. In contrast, levels adjacent to the fused segment showed an increased motion in FE and LB as compensation for the loss of motion at the treated level. The IDP at the adjacent C3-C4 level after implantation of bioAID was close to intact values. After fusion, increased IDP was found compared with intact but did not reach statistical significance. Conclusion: This study indicates that the bioAID can mimic the kinematic behavior of the replaced intervertebral disc and preserves that for the adjacent levels better than fusion. As a result, CDR using the novel bioAID is a promising alternative treatment for replacing severely degenerated intervertebral discs.

A randomized, placebo controlled study: EMLA in minor breast surgery.

AIM: Patients undergoing excision for breast lumps prefer general anesthesia or local anesthesia plus sedation, because of the fear of pain for local anesthesia alone. The aim of this study is to show the efficacy of an eutectic mixture of local anesthetic lignocaine and prilocaine (EMLA®) in these patients. METHODS: This study has been designed randomized, placebo-controlled. Forty five patients undergoing excision for breast lumps were divided into three groups. The first group was administered local EMLA cream preoperatively (Group I, N.=15), the second group (Group II, N.=15) had no preoperative preparation and the third group was placebo group (Group III, N.=15). All groups underwent the operation under local anesthesia. Pain during the local anesthesia and three hours after the operation were assessed using the visual analog scale. The amount of local anesthetic used during the operation and the anesthetic need of patients after the operation were assessed. RESULTS: When the three groups were compared, it was found that the intensity of pain in the group with EMLA was considerably lower during and after the operation (P<0.05). The amount of local anesthetic used during the operation was lower (P<0.05) and the need for post-operative analgesic was also less than the usual (P<0.05). CONCLUSION: Topical EMLA use decreases the pain, provides per-operative and postoperative patient and physician comfort, improved patient's compliance, and simplifies the surgical procedure. This is the first study demonstrating that a topical anesthetic provides a non-invasive analgesia during benign breast mass excision.

Atomic structure of an FeCrMoCBY metallic glass revealed by high energy x-ray diffraction.

Amorphous bulk metallic glasses with the composition Fe48Cr15Mo14C15B6Y2have been of interest due to their special mechanical and electronic properties, including corrosion resistance, high yield-strength, large elasticity, catalytic performance, and soft ferromagnetism. Here, we apply a reverse Monte Carlo technique to unravel the atomic structure of these glasses. The pair-distribution functions for various atomic pairs are computed based on the high-energy x-ray diffraction data we have taken from an amorphous sample. Monte Carlo cycles are used to move the atomic positions until the model reproduces the experimental pair-distribution function. The resulting fitted model is consistent with ourab initiosimulations of the metallic glass. Our study contributes to the understanding of functional properties of Fe-based bulk metallic glasses driven by disorder effects.

Synovial membrane-derived mesenchymal progenitor cells from osteoarthritic joints in dogs possess lower chondrogenic-, and higher osteogenic capacity compared to normal joints.

BACKGROUND: Synovial membrane-derived mesenchymal progenitor cells (SM-MPCs) are a promising candidate for the cell-based treatment of osteoarthritis (OA) considering their in vitro and in vivo capacity for cartilage repair. However, the OA environment may adversely impact their regenerative capacity. There are no studies for canine (c)SM-MPCs that compare normal to OA SM-MPCs, even though dogs are considered a relevant animal model for OA. Therefore, this study compared cSM-MPCs from normal and OA synovial membrane tissue to elucidate the effect of the OA environment on MPC numbers, indicated by CD marker profile and colony-forming unit (CFU) capacity, and the impact of the OA niche on tri-lineage differentiation. METHODS: Normal and OA synovial membrane were collected from the knee joints of healthy dogs and dogs with rupture of the cruciate ligaments. The synovium was assessed by histopathological OARSI scoring and by RT-qPCR for inflammation/synovitis-related markers. The presence of cSM-MPCs in the native tissue was further characterized with flow cytometry, RT-qPCR, and immunohistochemistry, using the MPC markers; CD90, CD73, CD44, CD271, and CD34. Furthermore, cells isolated upon enzymatic digestion were characterized by CFU capacity, and a population doublings assay. cSM-MPCs were selected based on plastic adherence, expanded to passage 2, and evaluated for the expression of MPC-related surface markers and tri-lineage differentiation capacity. RESULTS: Synovial tissue collected from the OA joints had a significantly higher OARSI score compared to normal joints, and significantly upregulated inflammation/synovitis markers S100A8/9, IL6, IL8, and CCL2. Both normal and OA synovial membrane contained cells displaying MPC properties, including a fibroblast-like morphology, CFU capacity, and maintained MPC marker expression over time during expansion. However, OA cSM-MPCs were unable to differentiate towards the chondrogenic lineage and had low adipogenic capacity in contrast to normal cSM-MPCs, whereas they possessed a higher osteogenic capacity. Furthermore, the OA synovial membrane contained significantly lower percentages of CD90+, CD44+, CD34+, and CD271+ cells. CONCLUSIONS: The OA environment had adverse effects on the regenerative potential of cSM-MPCs, corroborated by decreased CFU, population doubling, and chondrogenic capacity compared to normal cSM-MPCs. OA cSM-MPCs may be a less optimal candidate for the cell-based treatment of OA than normal cSM-MPCs.

Magnetic and interface properties of Fe(0.82)Ni(0.18)/Co(001) superlattices.

The thickness dependence of the Fe magnetic hyperfine field and the interfacial intermixing of Fe(0.82)Ni(0.18)/Co superlattices, with the same thickness for FeNi and Co layers, have been investigated. A local concentration model using the magnetic hyperfine field values from the [Fe(0.82)Ni(0.18)](1 - x)Co(x) alloys has been used to interpret the field distribution in the superlattices and the Co concentration profiles over the superlattices. A relationship between the Fe magnetic hyperfine field and the Fe magnetic moment has been determined for the unordered [Fe(0.82)Ni(0.18)](1 - x)Co(x) and Fe(1 - x)Co(x) alloys. The magnetic hyperfine fields have been explained using two Fermi contact terms: (i) the core electron term proportional to the Fe magnetic moment with a proportionality constant of - 13 T/µ(B) and (ii) a valence electron term linearly dependent on the Co concentration. The direction of the magnetic moments is found to be in the sample plane except for the 1/1 superlattice, where an angle of about 45° is found.

Can intraoperative endoscopy prevent esophagojejunal anastomotic leakage after total gastrectomy?

BACKGROUND: Esophagojejunostomy (EJ) is frequently performed after total gastrectomy for proximal gastric tumors. Despite evolving surgical techniques and improving perioperative care, the EJ leak is one of the most severe life-threatening complications. This study investigated the preventability of postoperative anastomotic complications by performing intraoperative endoscopy. METHODS: We included 86 patients who underwent total gastrectomy and Roux-en-Y esophagojejunostomy anastomosis in the study. Patients were divided into two groups and analyzed retrospectively. Group 1 consisted of 43 patients who did not undergo intraoperative endoscopy between 2017 and 2019, and Group 2 included 43 patients who underwent intraoperative endoscopy between 2019 and 2020. RESULTS: Esophagojejunostomy anastomotic leak (EAL) was observed in 2.3 % of patients in Group 1 but not in Group 2. Anastomosis-related abnormal findings (anastomotic defect, bleeding, air leak, mucosal separation) were recorded in seven patients of Group 2 during endoscopy. When such findings were observed, additional full-thickness sutures were placed on the anastomosis line and strengthened. Complication related to anastomosis was not observed in the postoperative period in Group 2. DISCUSSION: After a total gastrectomy, the most severe complication affecting mortality, morbidity, and consequently the cost of the disease is esophagojejunal anastomotic leakage. Most of these complications are induced by technical errors not noticed during surgery. The crucial advantage of performing intraoperative endoscopy is the technically detailed evaluation of anastomosis. CONCLUSION: Intraoperative endoscopy is a safe method to evaluate the strength of anastomosis. This procedure provides detailed information regarding anastomotic integrity. HIPPOKRATIA 2021, 25 (3):108-112.

Atomic arrangements in an amorphous CoFeB ribbon extracted via an analysis of radial distribution functions.

We discuss the atomic structure of amorphous ferromagnetic FeCoB alloys, which are used widely in spintronics applications. Specifically, we obtain the pair-distribution functions for various atomic pairs based on high-energy x-ray diffraction data taken from an amorphous Co20Fe61B19specimen. We start our reverse Monte Carlo cycles to determine the disordered structure with a two-phase model in which a small amount of cobalt is mixed with Fe23B6as a second phase. The structure of the alloy is found to be heterogeneous, where the boron atoms drive disorder through the random occupation of the atomic network. Our analysis also indicates the presence of small cobalt clusters that are embedded in the iron matrix and percolating the latter throughout the structure. This morphology can explain the enhanced spin polarization observed in amorphous magnetic materials.

Size-dependent magnetic properties of γ-Fe2O3 nanocrystallites.

A route for synthesizing monodisperse magnetic nanocrystallites of maghemite, [Formula: see text]-Fe2O3, with various sizes has been revisited. A systematic investigation of three [Formula: see text]-Fe2O3 nanocrystalline samples by different techniques has been performed to characterize their size-dependent magnetic properties. Zero-field-cooled and field-cooled magnetization measurements reveal that the superparamagnetic blocking temperatures are around 230 K, 170 K, and 50 K for the 15.0 nm, 11.8 nm, and 6.1 nm nanocrystallites, respectively. Low-temperature Mössbauer spectra show that all three nanocrystallites have the maghemite structure with all the vacancies in the B-sites. Furthermore, detailed analysis shows that there are more vacancies on the B-sites for the 6.1 nm nanocrystallites compared to 0.33 for the bulk maghemite.

Magnetic properties of γ-Fe2O3 nanoparticles in a porous SiO2 shell for drug delivery.

A method is presented for synthesizing core-shell nanoparticles with a magnetic core and a porous shell suitable for drug delivery and other medical applications. The core contains multiple γ-Fe2O3 nanoparticles (∼15 nm) enclosed in a SiO2 (∼100-200 nm) matrix using either methyl (denoted TMOS-γ-Fe2O3) or ethyl (TEOS-γ-Fe2O3) template groups. Low-temperature Mössbauer spectroscopy showed that the magnetic nanoparticles have the maghemite structure, γ-Fe2O3, with all the vacancies in the octahedral sites. Saturation magnetization measurements revealed that the density of γ-Fe2O3 was greater in the TMOS-γ-Fe2O3 nanoparticles than TEOS-γ-Fe2O3 nanoparticles, presumably because of the smaller methyl group. Magnetization measurements showed that the blocking temperature is around room temperature for the TMOS-γ-Fe2O3 and around 250 K for the TEOS-γ-Fe2O3. Three dimensional topography analysis shows clearly that the magnetic nanoparticles are not only at the surface but have penetrated deep in the silica to form the core-shell structure.

Takayasu's arteritis in Turkey - clinical and angiographic features of 248 patients.

OBJECTIVE: Takayasu's arteritis (TA) is a chronic, inflammatory vasculitis affecting the aorta and its major branches. Although it is more prevalent in Far-East Asia, the distribution of the disease is worldwide with different vascular involvement patterns and clinical manifestations. The objective of this study was to evaluate the demographic, clinical, angiographic and prognostic features of TA patients in Turkey. METHODS: Clinical and angiographic findings of 248 TA patients (228 female, 27 male) followed at 15 Rheumatology Centers were prospectively evaluated according to a predefined protocol. RESULTS: The mean age was 40.1 years (30.2 years at the clinical onset). Clinical manifestations included constitutional symptoms in 66%, absent or diminished pulses in 88%, bruits in 77%, extremity pain in 69%, claudication in 48%, hypertension in 43% and cerebrovascular accidents (CVA) in 18% of the patients. Renal artery stenosis, aortic regurgitation and pulmonary hypertension were present in 26%, 33% and 12%, respectively. According to the new angiographic classification, type V (50.8%) and Type I (32%) were the most frequent types of involvement. Corticosteroids were the main treatment in 93% of the patients alone (9%) or in combination with immunosuppressive agents (84%). Most frequently preferred immunosuppressive agents were methotrexate (63%), azathioprine (22%) and cyclophosphamide (13%). Remission was observed at least once in 94% of the patients and sustained remission in 71% during follow-up. CONCLUSION: The demographical, clinical and angiographic findings of TA patients in our series were similar to those reported from Japan, Brazil and Colombia. Combination therapies with immunosuppressive agents were the preferred choice of treatment in Turkey.

Adult-onset Still's disease.

BACKGROUND: Adult-onset Still's disease (AOSD) is a febrile disorder of unknown aetiology characterised by typical spiking fever, evanescent rash, arthralgia and leucocytosis. METHODS: According to the diagnostic criteria of AOSD, we identified 84 patients between 1990 and 2003. The aim of this study was to analyse the characteristics of AOSD in Turkish patients who were followed-up in a tertiary referral centre. RESULTS: Of 84 patients of AOSD, 59 (70.2%) were female, 25 (29.8%) were male. Arthralgia (96.4%), fever (95.2%), arthritis (69%), sore throat (65.5%) and typical rheumatoid rash (59.5%) were the most common findings. The mean value of laboratory findings were as follows; C-reactive protein level of 11.59 +/- 6.81 mg/dl, erythrocyte sedimentation rate (ESR) of 89.05 +/- 31 mm/h, leukocyte count of 16,234.51 +/- 7785.2/microl. Leucocytosis was present in 69 patients (84.15%). Forty-eight patients had a WBC count >or= 15,000/microl. Hypoalbuminaemia was present in 35 patients. Abnormal levels of aspartate aminotransferase and alanine aminotransferase were observed in 30 patients, whereas abnormal levels of alkaline phosphatase in 16 patients. Thirty-seven patients had an ESR value of more than 100 mm/h. Thirty-two patients had a ferritin value of more than 1000 ng/dl. CONCLUSION: High fever, sore throat, rheumatoid rash, polyarthritis, hyperferritinaemia (>or= 1000 ng/ml), leucocytosis with a neutrophilic predominance, anaemia and hypoalbuminaemia were remarkable observations in the initial examination.

PTPN22 gene polymorphism in Takayasu's arteritis.

OBJECTIVE: Takayasu's arteritis (TA) is a chronic, rare granulomatous panarteritis of unknown aetiology involving mainly the aorta and its major branches. In this study, genetic susceptibility to TA has been investigated by screening the functional single nucleotide polymorphism (SNP) of PTPN22 gene encoding the lymphoid-specific protein tyrosine phosphatase. METHODS: Totally, 181 patients with TA and 177 healthy controls are genotyped by PCR-RFLP method for the SNP rs2476601 (A/G) of PTPN22 gene. Polymorphic region was amplified by PCR and digested with Xcm I enzyme. RESULTS: Detected frequencies of heterozygous genotype (AG) were 5.1% (9/177) in control group and 3.8% (7/181) in TA group (P = 0.61, odds ratio: 0.75, 95% CI: 0.3, 2.0). No association with angiographic type, vascular involvement or prognosis of TA was observed either. CONCLUSION: The distribution of PTPN22 polymorphism did not reveal any association with TA in Turkey.

MEFV gene 3'-UTR Alu repeat polymorphisms in patients with familial Mediterranean fever.

OBJECTIVE: Familial Mediterranean fever (FMF), an autosomal recessively inherited autoinflammatory disorder, is caused by missense mutations in the pyrin-encoding MEFV gene. The MEFV mutations can be detected in the majority of FMF patients, but there is an important proportion of patients with the FMF phenotype who carry a single or no coding region mutation. This study aimed to investigate the promoter region and 3'-UTR polymorphisms of the MEFV gene in a group of FMF patients with no coding region mutations, to identify variations with a possible role in the regulation of MEFV expression. METHODS: The study group consisted of 289 patients with FMF and 103 ethnically-matched healthy individuals of Turkish origin. All individuals were first genotyped for the five most commonly observed mutations (M694V, M680I, V726A, E148Q and M694I). Then, the coding regions of the MEFV gene in patients carrying none of the 5 mutations were amplified and screened using single-stranded conformation polymorphism and DNA sequencing. After the exclusion of patients with mutations in exons, the promoter and 3'-UTR regions of the MEFV gene were investigated in the remainder. For the haplotype analysis, all study groups were genotyped for two of the 3'-UTR single nucleotide polymorphisms (SNP). RESULTS: Genotyping for five mutations revealed 186 patients (64.4%) with two mutations, 61 patients (21.1%) with one mutation, and 42 patients (14.5%) with no mutation. The carrier rate for healthy controls was found to be 10%. After screening all 10 exons in the patients with none of the 5 mutations, we identified 36 patients (12.5%) who had no coding region mutations. Analysis of the 3'-UTR region in these patients showed two Alu repeats (AluSx and AluSq), which were located in the 3'-UTR of the reference mRNA sequence. Sequencing of the 3'-UTR of the MEFV gene showed several SNPs that were clustered in 2 haplotypes. When we genotyped all study groups for two of the 3'-UTR SNPs (rs2741918 and rs450021), we observed a significant increase in the frequency of heterozygotes for the 3'-UTR haplotypes in the FMF patients with no coding region polymorphisms compared to the healthy controls (75% versus 48.5%, p=0.006, OR=3.2, 95% CI 1.4-7.4). CONCLUSION: This study showed a group of 3'-UTR polymorphisms in the MEFV gene that are clustered in two haplotypes. In addition, a genetic association was observed between 3'-UTR polymorphisms and the FMF patients with no coding region mutations. These findings may suggest a role for 3'-UTR sequences in the regulation of MEFV expression.

Anti-CCP antibodies in rheumatoid arthritis and psoriatic arthritis.

Our aim is to assess the prevalence and associated clinical features of anti-CCP (cyclic citrullinated peptide) antibodies for RF (rheumatoid factor)-positive and RF-negative rheumatoid arthritis (RA) and psoriatic arthritis (PsA). In a prospective, cross-sectional, multi-centre study, we determined the titres of anti-CCP antibodies in 208 RA patients (129 RF-positive, 79 RF-negative), 56 PsA patients and 39 healthy controls (HC). Clinical parameters including disease activity (disease activity score 28-DAS28), physical disability (health assessment questionnaire-HAQ), functional capacity (functional class) and radiological erosions were investigated in patients with RA. In PsA patients, clinical and radiological features were determined. Anti-CCP2 antibodies were measured using a second-generation anti-CCP enzyme-linked immunosorbent assay (Euro-Diagnostica, Netherlands). One-hundred four of 129 RF-positive RA (81%), 16 of 79 RF-negative RA (20%), seven of 56 PsA patients (12.5%) and none of the HC had anti-CCP antibodies. RA patients with anti-CCP antibodies had significantly higher disease activity, greater loss of function and more frequent erosive disease than anti-CCP antibody-negative group. In subgroup analysis, anti-CCP antibodies in RF-negative patients were also associated with erosive disease. All PsA patients with anti-CCP antibodies had symmetric arthritis with higher number of swollen joints. The prevalence of anti-CCP antibodies in RF-positive RA patients was significantly higher than in RF-negative RA and PsA patients. Anti-CCP antibodies were also associated with erosive disease in RF-negative RA patients. Both anti-CCP and RF tests were negative in 30% of the patients. Anti-CCP positivity was a frequent finding in PsA and associated with symmetrical polyarthritis.

Interleukin (IL)-12, IL-2, and IL-6 gene polymorphisms in Takayasu's arteritis from Turkey.

Takayasu's arteritis (TA) is a chronic arterial inflammation of unknown etiology involving mainly the aorta and its major branches. Genetic polymorphisms of cytokines are screened as susceptibility factors for TA in Turkey. A total of 94 patients with TA were investigated for the genetic polymorphisms of the interleukin genes IL12, IL2,and IL6 and were compared with 108 healthy control subjects using polymerase chain reaction-sequence-specific primer method. The frequencies of IL12B 1188 C allele (p = 0.03, OR = 1.7) and CC genotype (p = 0.007, OR = 3.7) were both higher in TA patients than in control subjects. TT genotype at IL2-330 (p = 0.006, OR = 2.4) and GG genotype at IL6-174 (p = 0.04, OR = 1.9) were more frequent in TA patients. Lower prevalence of GT genotype at IL2-330 (p = 0.005, OR = 0.4), CG genotype at IL6-174 (p = 0.001, OR = 0.4), and AG genotypes at IL6-598 (p = 0.01, OR = 0.4) were also detected. The polymorphism of IL-12 as well as IL-6 and IL-2 genes may contribute to susceptibility and pathogenesis of TA by altering cytokine production and inducing inflammation.